BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The ...BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The purpose of this study is to retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating ADPKD patients with gross hematuria.Materials and methods:During the period from January 2018 to December 2019,renal transcatheter arterial embolization was carried out on 6 patients with polycystic kidneys and gross hematuria.Renal arteriography was performed first,and then we determined the location of the hemorrhage and performed embolization under digital subtraction angiography monitoring.Improvements in routine blood test results,routine urine test results,urine color and postoperative reactions were observed and analyzed.Results:Renal transcatheter arterial embolization was successfully conducted in 6 patients.The indices of 5 patients and the color of gross hematuria improved after surgery compared with before surgery.No severe complication reactions occurred.CONCLUSION For autosomal dominant polycystic kidney syndrome patients with gross hematuria,transcatheter arterial embolization was safe and effective.展开更多
Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disea...Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disease and pulmonary hypertension.However,the relationship between NOTCH3 mutations and theclinical phenotype has not been reported in CHD-PAH.Methods:We eventually enrolled 142 PAH-CHD patientsfrom Fuwai Hospital.Whole exome sequencing(WES)was performed to screen the rare deleterious variants ofNOTCH3 gene.Results:This PAH-CHD cohort included 43(30.3%)men and 99(69.7%)women with the meanage 29.8±10.9 years old.The pathogenic or likely pathogenic mutations of NOTCH3 were identified in five cases.Patients 2,5,8 and 11 carried the same NOTCH3 mutation c.1630C>T(pArg544Cys),which is the hot-spotmutation for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL).Patient 3 carried the NOTCH3 mutation p.Arg75Gln that has also been reported to be associatedwith the CADASIL.Patients 2,5,8,11 took the examination of the cerebral magnetic resonance imaging(MRI)and confirmed the phenotype of CADASIL.Conclusions:We first reported the NOTCH3 rare mutationsand CADASIL phenotypes in CHD-PAH patients.The NOTCH3 rare variants were with a relatively high positiverate and CADASIL phenotypes were likely enriched in PAH-CHD patients.The preoperative neurological examinationmight be recommended for PAH-CHD patients to determine the surgical contraindications and reduceintraoperative neurological complications.展开更多
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累...伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。展开更多
AIM To investigate the relationship of inferior wall ischemia on myocardial perfusion imaging in patients with nondominant right coronary artery anatomy.METHODS This was a retrospective observational analysis of conse...AIM To investigate the relationship of inferior wall ischemia on myocardial perfusion imaging in patients with nondominant right coronary artery anatomy.METHODS This was a retrospective observational analysis of consecutive patients who presented to the emergency department with primary complaint of chest pain.Only patients who underwent single photon emission computed tomography(SPECT)myocardial perfusion imaging(MPI)were included.Patients who showed a reversible defect on SPECT MPI and had coronary angiography during the same hospitalization was analyzed.Patients with prior history of coronary artery disease(CAD)including history of percutaneous coronary intervention and coronary artery bypass graft surgerys were excluded.True positive and false positive results were identified on the basis of hemodynamically significant CAD on coronary angiography,in the same territory as identified on SPECT MPI.Coronary artery dominance was determined on coronary angiography.Patients were divided into group 1 and group 2.Group1 included patients with non-dominant right coronary artery(RCA)(left dominant and codominant).Group2 included patients with dominant RCA anatomy.Demographics,baseline characteristics and positive predictive value(PPV)were analyzed for the two groups.RESULTS The mean age of the study cohort was 57.6 years.Sixtyone point seven percent of the patients were males.The prevalence of self-reported diabetes mellitus,hypertension and dyslipidemia was 36%,71.9%and 53.9%respectively.A comparison of baseline characteristics between the two groups showed that patients with a non-dominant RCA were more likely to be men.For inferior wall ischemia on SPECT MPI,patients in study group 2 had a significantly higher PPV,32/42(76.1%),compared to patients in group 1,in which only 3 out of the 29 patients(10.3%)had true positive results(P value<0.001 Z test).The difference remained statistically significant even when only patients with left dominant coronary system(without co-dominant)were compared to patients with right dominant system(32/40,76.1%in right dominant group,3/19,15.8%in left dominant group,P value<0.001 Z test).There was no significant difference in mean hospital stay,re-hospitalization,and in-hospital mortality between the two groups.CONCLUSION The positive predictive value of SPECT MPI for inferior wall ischemia is affected by coronary artery dominance.More studies are needed to explain this phenomenon.展开更多
BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly considered.In some cases,SC...BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly considered.In some cases,SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in ADPKD.CASE SUMMARY Here,we report a 46-year-old female patient with ADPKD who presented with ACS.Coronary angiography revealed no definite signs of dissection,while intravascular ultrasound revealed a proximal to distal dissection of the left circumflex.After a careful conservative medication treatment,the patient exhibited favorable prognosis.CONCLUSION In cases of ADPKD co-existing with ACS,differential diagnosis of SCAD should be considered.Moreover,when no clear dissection is found on coronary angiography,IVUS should be performed to prevent missed diagnosis.展开更多
文摘BACKGROUND To retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating autosomal dominant polycystic kidney disease(ADPKD)patients with gross hematuria.CASE SUMMARY The purpose of this study is to retrospectively report the safety and efficacy of renal transcatheter arterial embolization for treating ADPKD patients with gross hematuria.Materials and methods:During the period from January 2018 to December 2019,renal transcatheter arterial embolization was carried out on 6 patients with polycystic kidneys and gross hematuria.Renal arteriography was performed first,and then we determined the location of the hemorrhage and performed embolization under digital subtraction angiography monitoring.Improvements in routine blood test results,routine urine test results,urine color and postoperative reactions were observed and analyzed.Results:Renal transcatheter arterial embolization was successfully conducted in 6 patients.The indices of 5 patients and the color of gross hematuria improved after surgery compared with before surgery.No severe complication reactions occurred.CONCLUSION For autosomal dominant polycystic kidney syndrome patients with gross hematuria,transcatheter arterial embolization was safe and effective.
基金Grant 81425002 from the National Science Fund for Distinguished Young ScholarsGrants 81670052,and 81870050 from the National Natural Science Foundation of ChinaGrant 2018ZX09711001-003-012 from the Drug Innovation Major Project,CAMS Fund for Key Laboratory of Pulmonary Vascular Medicine(2017PT32016).
文摘Background:The etiology of pulmonary arterial hypertension associated with congenital heart disease(PAHCHD)is complicated and the phenotype is heterogeneous.Genetic defects of NOTCH3 were associated withcerebral disease and pulmonary hypertension.However,the relationship between NOTCH3 mutations and theclinical phenotype has not been reported in CHD-PAH.Methods:We eventually enrolled 142 PAH-CHD patientsfrom Fuwai Hospital.Whole exome sequencing(WES)was performed to screen the rare deleterious variants ofNOTCH3 gene.Results:This PAH-CHD cohort included 43(30.3%)men and 99(69.7%)women with the meanage 29.8±10.9 years old.The pathogenic or likely pathogenic mutations of NOTCH3 were identified in five cases.Patients 2,5,8 and 11 carried the same NOTCH3 mutation c.1630C>T(pArg544Cys),which is the hot-spotmutation for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy(CADASIL).Patient 3 carried the NOTCH3 mutation p.Arg75Gln that has also been reported to be associatedwith the CADASIL.Patients 2,5,8,11 took the examination of the cerebral magnetic resonance imaging(MRI)and confirmed the phenotype of CADASIL.Conclusions:We first reported the NOTCH3 rare mutationsand CADASIL phenotypes in CHD-PAH patients.The NOTCH3 rare variants were with a relatively high positiverate and CADASIL phenotypes were likely enriched in PAH-CHD patients.The preoperative neurological examinationmight be recommended for PAH-CHD patients to determine the surgical contraindications and reduceintraoperative neurological complications.
文摘伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变所致的遗传性脑小血管病,主要病变血管为颅内小动脉,累及大脑皮质和颅内大/中动脉的报道较罕见,目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例,并结合文献进行讨论,旨在引起临床医师对CADASIL可累及大脑皮质和颅内大/中动脉的重视。
文摘AIM To investigate the relationship of inferior wall ischemia on myocardial perfusion imaging in patients with nondominant right coronary artery anatomy.METHODS This was a retrospective observational analysis of consecutive patients who presented to the emergency department with primary complaint of chest pain.Only patients who underwent single photon emission computed tomography(SPECT)myocardial perfusion imaging(MPI)were included.Patients who showed a reversible defect on SPECT MPI and had coronary angiography during the same hospitalization was analyzed.Patients with prior history of coronary artery disease(CAD)including history of percutaneous coronary intervention and coronary artery bypass graft surgerys were excluded.True positive and false positive results were identified on the basis of hemodynamically significant CAD on coronary angiography,in the same territory as identified on SPECT MPI.Coronary artery dominance was determined on coronary angiography.Patients were divided into group 1 and group 2.Group1 included patients with non-dominant right coronary artery(RCA)(left dominant and codominant).Group2 included patients with dominant RCA anatomy.Demographics,baseline characteristics and positive predictive value(PPV)were analyzed for the two groups.RESULTS The mean age of the study cohort was 57.6 years.Sixtyone point seven percent of the patients were males.The prevalence of self-reported diabetes mellitus,hypertension and dyslipidemia was 36%,71.9%and 53.9%respectively.A comparison of baseline characteristics between the two groups showed that patients with a non-dominant RCA were more likely to be men.For inferior wall ischemia on SPECT MPI,patients in study group 2 had a significantly higher PPV,32/42(76.1%),compared to patients in group 1,in which only 3 out of the 29 patients(10.3%)had true positive results(P value<0.001 Z test).The difference remained statistically significant even when only patients with left dominant coronary system(without co-dominant)were compared to patients with right dominant system(32/40,76.1%in right dominant group,3/19,15.8%in left dominant group,P value<0.001 Z test).There was no significant difference in mean hospital stay,re-hospitalization,and in-hospital mortality between the two groups.CONCLUSION The positive predictive value of SPECT MPI for inferior wall ischemia is affected by coronary artery dominance.More studies are needed to explain this phenomenon.
基金The National Natural Science Foundation of China,No.81670403Grant of Shanghai Science and Technology Committee,No.18411950300,No.19XD1403300,and No.19411963200.
文摘BACKGROUND When autosomal dominant polycystic kidney disease(ADPKD)presents with acute coronary syndrome(ACS),the possibility of spontaneous coronary artery dissection(SCAD)should be highly considered.In some cases,SCAD is considered an extrarenal manifestation of ADPKD depending on the pathological characteristics of the unstable arterial wall in ADPKD.CASE SUMMARY Here,we report a 46-year-old female patient with ADPKD who presented with ACS.Coronary angiography revealed no definite signs of dissection,while intravascular ultrasound revealed a proximal to distal dissection of the left circumflex.After a careful conservative medication treatment,the patient exhibited favorable prognosis.CONCLUSION In cases of ADPKD co-existing with ACS,differential diagnosis of SCAD should be considered.Moreover,when no clear dissection is found on coronary angiography,IVUS should be performed to prevent missed diagnosis.
